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J

Jennifer L. Kemppainen

Mayo Clinic
H指数:14
被引数:656

个人简介

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Ethically Integrating Genomics in Primary Care: An Invitation to Share Implementation Best Practices

伦理整合基因组学于初级保健：邀请分享实施最佳实践

Mayo Clinic Proceedings
IF6.7
2025-12-100
PRE
Elisa J.F. Houwink; Karen M. Meagher; Bjoerg (Bjorg) Thorsteinsdottir; Preya Agam; Omar Kawam; Jenny L. Anderson; Jessa Bidwell; Ewan K. Cobran; Sagar B. Dugani; Denise Dupras; Jennifer L. Kemppainen; Iftikhar J. Kullo; Richard J. (John) Presutti; Sandhya Pruthi; Thomas G. Salter; Paul Y. Takahashi; Richard R. Sharp
Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education
MAYO CLINIC PROCEEDINGS
IF6.7
2024-12-011
PRE
Bandel, Lorelei A.; Vierkant, Robert A.; Kruisselbrink, Teresa M.; Bublitz, Michelle L.; Wilson, Tammy A.; Armasu, Sebastian M.; Egan, Jan B.; Presutti, Richard J.; Samadder, Niloy Jewel J.; Sekulic, Aleksandar; Olson, Rory J.; Tan-Arroyo, Jennifer; Morales-Rosado, Joel A.; Klee, Eric W.; Ferber, Matthew J.; Kemppainen, Jennifer L.; Anderson, Jennifer L.; Bidwell, Jessa S.; Wick, Joseph J.; Ortega, Victor E.; Bobo, William, V; Pichurin, Pavel N.; Mcmillan, Jessica M.; Weaver, DeAnna M.; Riegert-Johnson, Douglas L.; Cera, Alanna M.; Boucher, Lauren M.; Kullo, Iftikhar J.; Mantia, Sarah K.; Jones, Matthew T.; Larson, Nicholas B.; Luehrs, Tony C.; Leitzke, Jon W.; Sicotte, Hugues; Tian, Shulan; Stavlund, Jennifer R.; Pacyna, Joel E.; Sharp, Richard R.; Asabere, Akwasi A.; Lu, James; Mcallister, Tammy M.; Walker, T'Nita S.; Stewart, A. Keith; Farrugia, Gianrico; Lazaridis, Konstantinos N.
Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

单系统疾病患者非诊断性多基因组后外显子组和基因组测序的诊断率

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-05-240
OAAI
Wilke, Matheus V. M. B.; Klee, Eric W.; Dhamija, Radhika; Fervenza, Fernando C.; Thomas, Brittany; Leung, Nelson; Hogan, Marie C.; Hager, Megan M.; Kolbert, Kayla J.; Kemppainen, Jennifer L.; Loftus, Elle C.; Leitzen, Katie M.; Vitek, Carolyn R.; McAllister, Tammy; Lazaridis, Konstantinos N.; Vairo, Filippo Pinto e
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD) (vol 21, 410, 2023)
JOURNAL OF TRANSLATIONAL MEDICINE
IF7.5
2024-04-300
OAAI
Vairo, Filippo Pinto e; Kemppainen, Jennifer L.; Vitek, Carolyn R. Rohrer; Whalen, Denise A.; Kolbert, Kayla J.; Sikkink, Kaitlin J.; Kroc, Sarah A.; Kruisselbrink, Teresa; Shupe, Gabrielle F.; Knudson, Alyssa K.; Burke, Elizabeth M.; Loftus, Elle C.; Bandel, Lorelei A.; Prochnow, Carri A.; Mulvihill, Lindsay A.; Thomas, Brittany; Gable, Dale M.; Graddy, Courtney B.; Garzon, Giovanna G. Moreno; Ekpoh, Idara U.; Porquera, Eva M. Carmona; Fervenza, Fernando C.; Hogan, Marie C.; El Ters, Mireille; Warrington, Kenneth J.; Davis, John M.; Koster, Matthew J.; Orandi, Amir B.; Basiaga, Matthew L.; Vella, Adrian; Kumar, Seema; Creo, Ana L.; Lteif, Aida N.; Pittock, Siobhan T.; Tebben, Peter J.; Abate, Ejigayehu G.; Joshi, Avni Y.; Ristagno, Elizabeth H.; Patnaik, Mrinal S.; Schimmenti, Lisa A.; Dhamija, Radhika; Sabrowsky, Sonia M.; Wierenga, Klaas J.; Keddis, Mira T.; Samadder, Niloy Jewel J.; Presutti, Richard J.; Robinson, Steven I.; Stephens, Michael C.; Roberts, Lewis R.; Faubion, William A.; Driscoll, Sherilyn W.; Wong-Kisiel, Lily C.; Selcen, Duygu; Flanagan, Eoin P.; Ramanan, Vijay K.; Jackson, Lauren M.; Mauermann, Michelle L.; Ortega, Victor E.; Anderson, Sarah A.; Aoudia, Stacy L.; Klee, Eric W.; McAllister, Tammy M.; Lazaridis, Konstantinos N.
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

在三级医疗保健系统中实施罕见疾病的基因组医学: 罕见和未诊断疾病的梅奥诊所计划 (PRaUD)

JOURNAL OF TRANSLATIONAL MEDICINE
IF7.5
2023-06-234
OAAI
Pinto e Vairo, Filippo; Kemppainen, Jennifer L.; Vitek, Carolyn R. Rohrer; Whalen, Denise A.; Kolbert, Kayla J.; Sikkink, Kaitlin J.; Kroc, Sarah A.; Kruisselbrink, Teresa; Shupe, Gabrielle F.; Knudson, Alyssa K.; Burke, Elizabeth M.; Loftus, Elle C.; Bandel, Lorelei A.; Prochnow, Carri A.; Mulvihill, Lindsay A.; Thomas, Brittany; Gable, Dale M.; Graddy, Courtney B.; Garzon, Giovanna G. Moreno; Ekpoh, Idara U.; Porquera, Eva M. Carmona; Fervenza, Fernando C.; Hogan, Marie C.; El Ters, Mireille; Warrington, Kenneth J.; Davis III, John M.; Koster, Matthew J.; Orandi, Amir B.; Basiaga, Matthew L.; Vella, Adrian; Kumar, Seema; Creo, Ana L.; Lteif, Aida N.; Pittock, Siobhan T.; Tebben, Peter J.; Abate, Ejigayehu G.; Joshi, Avni Y.; Ristagno, Elizabeth H.; Patnaik, Mrinal S.; Schimmenti, Lisa A.; Dhamija, Radhika; Sabrowsky, Sonia M.; Wierenga, Klaas J.; Keddis, Mira T.; Samadder, Niloy Jewel J.; Presutti, Richard J.; Robinson, Steven I.; Stephens, Michael C.; Roberts, Lewis R.; Faubion, William A.; Driscoll, Sherilyn W.; Wong-Kisiel, Lily C.; Selcen, Duygu; Flanagan, Eoin P.; Ramanan, Vijay K.; Jackson, Lauren M.; Mauermann, Michelle L.; Ortega, Victor E.; Anderson, Sarah A.; Aoudia, Stacy L.; Klee, Eric W.; McAllister, Tammy M.; Lazaridis, Konstantinos N.
Impact of integrated translational research on clinical exome sequencing (vol 23, pg 498, 2021)
GENETICS IN MEDICINE
IF6.2
2023-02-011
PRE
Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
Genomics Integration Into Nephrology Practice
KIDNEY MEDICINE
IF3.4
2021-09-0115
OAAI
Vairo, Filippo Pinto E.; Prochnow, Carri; Kemppainen, Jennifer L.; Lisi, Emily C.; Steyermark, Joan M.; Kruisselbrink, Teresa M.; Pichurin, Pavel N.; Dhamija, Rhadika; Hager, Megan M.; Albadri, Sam; Cornell, Lynn D.; Lazaridis, Konstantinos N.; Klee, Eric W.; Senum, Sarah R.; El Ters, Mireille; Amer, Hatem; Baudhuin, Linnea M.; Moyer, Ann M.; Keddis, Mira T.; Zand, Ladan; Sas, David J.; Erickson, Stephen B.; Fervenza, Fernando C.; Lieske, John C.; Harris, Peter C.; Hogan, Marie C.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

致病性SPTBN1变异引起常染色体显性神经发育综合征

NATURE GENETICS
IF31.8
2021-07-0149
OAAI
Cousin, Margot A.; Creighton, Blake A.; Breau, Keith A.; Spillmann, Rebecca C.; Torti, Erin; Dontu, Sruthi; Tripathi, Swarnendu; Ajit, Deepa; Edwards, Reginald J.; Afriyie, Simone; Bay, Julia C.; Harper, Kathryn M.; Beltran, Alvaro A.; Munoz, Lorena J.; Falcon Rodriguez, Liset; Stankewich, Michael C.; Person, Richard E.; Si, Yue; Normand, Elizabeth A.; Blevins, Amy; May, Alison S.; Bier, Louise; Aggarwal, Vimla; Mancini, Grazia M. S.; van Slegtenhorst, Marjon A.; Cremer, Kirsten; Becker, Jessica; Engels, Hartmut; Aretz, Stefan; MacKenzie, Jennifer J.; Brilstra, Eva; van Gassen, Koen L. I.; van Jaarsveld, Richard H.; Oegema, Renske; Parsons, Gretchen M.; Mark, Paul; Helbig, Ingo; McKeown, Sarah E.; Stratton, Robert; Cogne, Benjamin; Isidor, Bertrand; Cacheiro, Pilar; Smedley, Damian; Firth, Helen V.; Bierhals, Tatjana; Kloth, Katja; Weiss, Deike; Fairley, Cecilia; Shieh, Joseph T.; Kritzer, Amy; Jayakar, Parul; Kurtz-Nelson, Evangeline; Bernier, Raphael A.; Wang, Tianyun; Eichler, Evan E.; van de Laar, Ingrid M. B. H.; McConkie-Rosell, Allyn; McDonald, Marie T.; Kemppainen, Jennifer; Lanpher, Brendan C.; Schultz-Rogers, Laura E.; Gunderson, Lauren B.; Pichurin, Pavel N.; Yoon, Grace; Zech, Michael; Jech, Robert; Winkelmann, Juliane; Beltran, Adriana S.; Zimmermann, Michael T.; Temple, Brenda; Moy, Sheryl S.; Klee, Eric W.; Tan, Queenie K. -G.; Lorenzo, Damaris N.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

SPEN单倍功能不全导致神经发育障碍重叠近端1p36缺失综合征，并伴有女性X染色体的表观特征

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-03-0157
OAAI
Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Cuevas, July K. Jean; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M. R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B. A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P. A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E. M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E. L. M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco
Impact of integrated translational research on clinical exome sequencing
GENETICS IN MEDICINE
IF6.2
2021-03-0132
OAAI
Klee, Eric W.; Cousin, Margot A.; Vairo, Filippo Pinto e; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine, I; Rust, Laura M.; Bolster, Jolene M. Summer; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding
JOURNAL OF BIOLOGICAL CHEMISTRY
IF3.9
2017-03-0118
OAAI
Blackburn, Patrick R.; Tischer, Alexander; Zimmermann, Michael T.; Kemppainen, Jennifer L.; Sastry, Sujatha; Knight Johnson, Amy E.; Cousin, Margot A.; Boczek, Nicole J.; Oliver, Gavin; Misra, Vinod K.; Gavrilova, Ralitza H.; Lomberk, Gwen; Auton, Matthew; Urrutia, Raul; Klee, Eric W.

研究方向

暂未获取到该数据
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,899
E
Eric W. Klee
H 指数:54论文数:461被引数:1.0万
K
Konstantinos N. Lazaridis
H 指数:54论文数:269被引数:1.2万
T
Teresa Kruisselbrink
H 指数:18论文数:60被引数:1,563
M
Marie C. Hogan
H 指数:54论文数:204被引数:1.0万
C
Carri A. Prochnow
H 指数:8论文数:22被引数:201
T
Tammy M. McAllister
H 指数:10论文数:41被引数:512
F
Fernando C. Fervenza
H 指数:97论文数:597被引数:3.8万
R
Radhika Dhamija
H 指数:21论文数:127被引数:1,734
P
Pavel N. Pichurin
H 指数:32论文数:107被引数:3,489